Literature DB >> 26748457

Ineffective quinidine therapy in early onset epileptic encephalopathy with KCNT1 mutation.

Pin Fee Chong1, Ryoko Nakamura1, Hirotomo Saitsu2, Naomichi Matsumoto2, Ryutaro Kira1.   

Abstract

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Year:  2016        PMID： 26748457     DOI： 10.1002/ana.24598

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  20 in total

Review 1.  The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

Authors:  Davide Mei; Elena Parrini; Carla Marini; Renzo Guerrini
Journal:  Mol Diagn Ther       Date:  2017-08       Impact factor: 4.074

2.  Precision Medicine: NMDA Receptor-Targeted Therapy for GRIN2D Encephalopathy.

Authors:  Jennifer A Kearney
Journal:  Epilepsy Curr       Date:  2017 Mar-Apr       Impact factor: 7.500

Review 3.  Therapy in Sleep-Related Hypermotor Epilepsy (SHE).

Authors:  Gian Maria Asioli; Simone Rossi; Francesca Bisulli; Laura Licchetta; Paolo Tinuper; Federica Provini
Journal:  Curr Treat Options Neurol       Date:  2020-01-30       Impact factor: 3.598

4.  Early Treatment with Quinidine in 2 Patients with Epilepsy of Infancy with Migrating Focal Seizures (EIMFS) Due to Gain-of-Function KCNT1 Mutations: Functional Studies, Clinical Responses, and Critical Issues for Personalized Therapy.

Authors:  Robertino Dilena; Jacopo C DiFrancesco; Maria Virginia Soldovieri; Antonella Giacobbe; Paolo Ambrosino; Ilaria Mosca; Maria Albina Galli; Sophie Guez; Monica Fumagalli; Francesco Miceli; Dario Cattaneo; Francesca Darra; Elena Gennaro; Federico Zara; Pasquale Striano; Barbara Castellotti; Cinzia Gellera; Costanza Varesio; Pierangelo Veggiotti; Maurizio Taglialatela
Journal:  Neurotherapeutics       Date:  2018-10       Impact factor: 7.620

Review 5.  Ion Channels in Genetic Epilepsy: From Genes and Mechanisms to Disease-Targeted Therapies.

Authors:  Julia Oyrer; Snezana Maljevic; Ingrid E Scheffer; Samuel F Berkovic; Steven Petrou; Christopher A Reid
Journal:  Pharmacol Rev       Date:  2018-01       Impact factor: 25.468

Review 6.  Genomics-Guided Precise Anti-Epileptic Drug Development.

Authors:  Norman Delanty; Gianpiero Cavalleri
Journal:  Neurochem Res       Date:  2017-06-12       Impact factor: 3.996

Review 7.  Rational Small Molecule Treatment for Genetic Epilepsies.

Authors:  Ethan M Goldberg
Journal:  Neurotherapeutics       Date:  2021-08-24       Impact factor: 6.088

Review 8.  Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.

Authors:  Juliet K Knowles; Ingo Helbig; Cameron S Metcalf; Laura S Lubbers; Lori L Isom; Scott Demarest; Ethan M Goldberg; Alfred L George; Holger Lerche; Sarah Weckhuysen; Vicky Whittemore; Samuel F Berkovic; Daniel H Lowenstein
Journal:  Epilepsia       Date:  2022-07-17       Impact factor: 6.740

9.  Treatment Responsiveness in KCNT1-Related Epilepsy.

Authors:  Mark P Fitzgerald; Martina Fiannacca; Douglas M Smith; Tracy S Gertler; Boudewijn Gunning; Steffen Syrbe; Nienke Verbeek; Hannah Stamberger; Sarah Weckhuysen; Berten Ceulemans; An-Sofie Schoonjans; Massimiliano Rossi; Geneviève Demarquay; Gaetan Lesca; Kern Olofsson; D A Koolen; Frauke Hornemann; Stephanie Baulac; Guido Rubboli; Kelly Q Minks; Bohoon Lee; Ingo Helbig; Dennis Dlugos; Rikke S Møller; David Bearden
Journal:  Neurotherapeutics       Date:  2019-07       Impact factor: 7.620

10.  GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.

Authors:  Dong Li; Hongjie Yuan; Xilma R Ortiz-Gonzalez; Eric D Marsh; Lifeng Tian; Elizabeth M McCormick; Gabrielle J Kosobucki; Wenjuan Chen; Anthony J Schulien; Rosetta Chiavacci; Anel Tankovic; Claudia Naase; Frieder Brueckner; Celina von Stülpnagel-Steinbeis; Chun Hu; Hirofumi Kusumoto; Ulrike B S Hedrich; Gina Elsen; Konstanze Hörtnagel; Elias Aizenman; Johannes R Lemke; Hakon Hakonarson; Stephen F Traynelis; Marni J Falk
Journal:  Am J Hum Genet       Date:  2016-09-08       Impact factor: 11.025
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